메뉴 건너뛰기




Volumn 26, Issue 4, 2014, Pages 487-492

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: Review and update

Author keywords

genetic; hypothalamic dysfunction; hypoventilation; obesity; paraneoplastic

Indexed keywords

HOMEODOMAIN PROTEIN; PAIRED LIKE HOMEOBOX 2B; UNCLASSIFIED DRUG; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; NEUROPEPTIDE; OREXIN RECEPTOR; OREXINS; SIGNAL PEPTIDE;

EID: 84904462370     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0000000000000118     Document Type: Review
Times cited : (40)

References (32)
  • 1
    • 0000839176 scopus 로고
    • Primary alveolar hypoventilation syndrome (Ondine's Curse)
    • Fishman LS, Samson JH, Sperling DR. Primary alveolar hypoventilation syndrome (Ondine's Curse). Am J Dis Child 1965; 110:155-161.
    • (1965) Am J Dis Child , vol.110 , pp. 155-161
    • Fishman, L.S.1    Samson, J.H.2    Sperling, D.R.3
  • 2
    • 0033987475 scopus 로고    scopus 로고
    • Late-onset central hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome
    • DOI 10.1002/(SICI)1099-0496(200001)29:1<62::AID-PPUL10>3.0.CO;2-M
    • Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 2000; 29:62-68. (Pubitemid 30036678)
    • (2000) Pediatric Pulmonology , vol.29 , Issue.1 , pp. 62-68
    • Katz, E.S.1    McGrath, S.2    Marcus, C.L.3
  • 4
    • 53749102961 scopus 로고    scopus 로고
    • Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood
    • Bougneres P, Pantalone L, Linglart A, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor (ROHHADNET) syndrome in early childhood. J Clin Endocrinol Metab 2008; 93:3971-3980.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3971-3980
    • Bougneres, P.1    Pantalone, L.2    Linglart, A.3
  • 5
    • 77950565900 scopus 로고    scopus 로고
    • Carbon dioxide chemorecep-tion and hypoventilation syndromes with autonomic dysregulation
    • Carroll MS, Patwari PP, Weese-Mayer DE. Carbon dioxide chemorecep-tion and hypoventilation syndromes with autonomic dysregulation. J Appl Physiol 2010; 108:979-988.
    • (2010) J Appl Physiol , vol.108 , pp. 979-988
    • Carroll, M.S.1    Patwari, P.P.2    Weese-Mayer, D.E.3
  • 6
    • 77749322547 scopus 로고    scopus 로고
    • An official ATS clinical policy statement: Congenital central hypoventilation syndrome: Genetic basis, diagnosis, and management
    • Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 2010; 181:626-644.
    • (2010) Am J Respir Crit Care Med , vol.181 , pp. 626-644
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Ceccherini, I.3
  • 10
    • 57849103487 scopus 로고    scopus 로고
    • Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome
    • De Pontual L, Trochet D, Caillat-Zucman S, et al. Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res 2008; 64:689-694.
    • (2008) Pediatr Res , vol.64 , pp. 689-694
    • De Pontual, L.1    Trochet, D.2    Caillat-Zucman, S.3
  • 12
    • 0021799813 scopus 로고
    • Idiopathic hypothalamic dysfunction and impaired control of breathing
    • DuRivage SK, Winter RJ, Brouillette RT, et al. Idiopathic hypothalamic dysfunction and impaired control of breathing. Pediatrics 1985; 75:896-898. (Pubitemid 15054320)
    • (1985) Pediatrics , vol.75 , Issue.5 , pp. 896-898
    • DuRivage, S.K.1    Winter, R.J.2    Brouillette, R.T.3
  • 14
    • 84855901721 scopus 로고    scopus 로고
    • Variable human phenotype associated with novel deletions of the PHOX2B gene
    • Jennings LJ, Yu M, Rand CM, et al. Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol 2012; 47:153-161.
    • (2012) Pediatr Pulmonol , vol.47 , pp. 153-161
    • Jennings, L.J.1    Yu, M.2    Rand, C.M.3
  • 15
    • 80052347794 scopus 로고    scopus 로고
    • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: Analysis of hypothalamic and autonomic candidate genes
    • Rand CM, Patwari PP, Rodikova EA, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res 2011; 70:375-378.
    • (2011) Pediatr Res , vol.70 , pp. 375-378
    • Rand, C.M.1    Patwari, P.P.2    Rodikova, E.A.3
  • 16
    • 80052375325 scopus 로고    scopus 로고
    • Monozygotic twins discordant for ROHHAD phenotype
    • Patwari PP, Rand CM, Berry-Kravis EM, et al. Monozygotic twins discordant for ROHHAD phenotype. Pediatrics 2011; 128:e711-e715.
    • (2011) Pediatrics , vol.128
    • Patwari, P.P.1    Rand, C.M.2    Berry-Kravis, E.M.3
  • 17
    • 0035777024 scopus 로고    scopus 로고
    • Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
    • DOI 10.1146/annurev.genom.2.1.153
    • Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001; 2:153-175. (Pubitemid 35265004)
    • (2001) Annual Review of Genomics and Human Genetics , vol.2 , pp. 153-175
    • Nicholls, R.D.1    Knepper, J.L.2
  • 18
    • 0028786151 scopus 로고
    • Idiopathic hypothalamic dysfunction: A paraneoplastic syndrome?
    • Ouvrier R, Nunn K, Sprague T, et al. Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome? Lancet 1995; 346:1298.
    • (1995) Lancet , vol.346 , pp. 1298
    • Ouvrier, R.1    Nunn, K.2    Sprague, T.3
  • 19
    • 78651470439 scopus 로고    scopus 로고
    • Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysre-gulation syndrome
    • Paz-Priel I, Cooke DW, Chen AR. Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysre-gulation syndrome. J Pediatr 2011; 158:337-339.
    • (2011) J Pediatr , vol.158 , pp. 337-339
    • Paz-Priel, I.1    Cooke, D.W.2    Chen, A.R.3
  • 20
    • 84894481181 scopus 로고    scopus 로고
    • Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: New evidence supporting immunologic pathogenesis
    • Sartori S, Priante E, Pettenazzo A, et al. Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunologic pathogenesis. J Child Neurol 2014; 29:421-425.
    • (2014) J Child Neurol , vol.29 , pp. 421-425
    • Sartori, S.1    Priante, E.2    Pettenazzo, A.3
  • 21
    • 84995519007 scopus 로고    scopus 로고
    • Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): A case with additional features and review of the literature
    • Chew HB, Ngu LH, Keng WT. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature. BMJ Case Rep 2011; 2011.
    • (2011) BMJ Case Rep , vol.2011
    • Chew, H.B.1    Ngu, L.H.2    Keng, W.T.3
  • 22
    • 84884545921 scopus 로고    scopus 로고
    • Hypocretin-1 deficiency in a girl with ROHHAD syndrome
    • Dhondt K, Verloo P, Verhelst H, et al. Hypocretin-1 deficiency in a girl with ROHHAD syndrome. Endocr Pract 2013; 132:e788-e792.
    • (2013) Endocr Pract , vol.132
    • Dhondt, K.1    Verloo, P.2    Verhelst, H.3
  • 23
    • 55149112578 scopus 로고    scopus 로고
    • The dual role of the orexin/hypocretin system in modulating wakefulness and respiratory drive
    • Gestreau C, Bevengut M, Dutschmann M. The dual role of the orexin/hypocretin system in modulating wakefulness and respiratory drive. Curr Opin Pulm Med 2008; 14:512-518.
    • (2008) Curr Opin Pulm Med , vol.14 , pp. 512-518
    • Gestreau, C.1    Bevengut, M.2    Dutschmann, M.3
  • 24
    • 11144264102 scopus 로고    scopus 로고
    • Mechanisms and perspectives on differentiation of autonomic neurons
    • DOI 10.1016/j.ydbio.2004.09.034, PII S0012160604007092
    • Howard MJ. Mechanisms and perspectives on differentiation of autonomic neurons. Dev Biol 2005; 277:271-286. (Pubitemid 40022951)
    • (2005) Developmental Biology , vol.277 , Issue.2 , pp. 271-286
    • Howard, M.J.1
  • 25
    • 26044440585 scopus 로고    scopus 로고
    • Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
    • DOI 10.1093/hmg/ddi188
    • Bachetti T, Matera I, Borghini S, et al. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 2005; 14:1815-1824. (Pubitemid 41418053)
    • (2005) Human Molecular Genetics , vol.14 , Issue.13 , pp. 1815-1824
    • Bachetti, T.1    Matera, I.2    Borghini, S.3    Duca, M.D.4    Ravazzolo, R.5    Ceccherini, I.6
  • 26
    • 0344033754 scopus 로고    scopus 로고
    • Idiopathic Congenital Central Hypoventilation Syndrome: Analysis of Genes Pertinent to Early Autonomic Nervous System Embryologic Development and Identification of Mutations in PHOX2b
    • Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet A 2003; 123A:267-278. (Pubitemid 37464346)
    • (2003) American Journal of Medical Genetics , vol.123 A , Issue.3 , pp. 267-278
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Zhou, L.3    Maher, B.S.4    Silvestri, J.M.5    Curran, M.E.6    Marazita, M.L.7
  • 29
    • 38349040023 scopus 로고    scopus 로고
    • Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death
    • Gronli JO, Santucci BA, Leurgans SE, et al. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol 2008; 43:77-86.
    • (2008) Pediatr Pulmonol , vol.43 , pp. 77-86
    • Gronli, J.O.1    Santucci, B.A.2    Leurgans, S.E.3
  • 30
    • 84856917359 scopus 로고    scopus 로고
    • Pupillometry in congenital central hypoventilation syndrome (CCHS): Quantitative evidence of autonomic nervous system dysregulation
    • Patwari PP, Stewart TM, Rand CM, et al. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. Pediatr Res 2012; 71:280-285.
    • (2012) Pediatr Res , vol.71 , pp. 280-285
    • Patwari, P.P.1    Stewart, T.M.2    Rand, C.M.3
  • 31
    • 38849088791 scopus 로고    scopus 로고
    • Parental origin and somatic mosaicism of PHOX2B mutations in congenital central hypoventilation syndrome
    • Parodi S, Bachetti T, Lantieri F, et al. Parental origin and somatic mosaicism of PHOX2B mutations in congenital central hypoventilation syndrome. Hum Mutat 2008; 29:206.
    • (2008) Hum Mutat , vol.29 , pp. 206
    • Parodi, S.1    Bachetti, T.2    Lantieri, F.3
  • 32
    • 78650513584 scopus 로고    scopus 로고
    • Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers
    • Jennings LJ, Yu M, Zhou L, et al. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol 2010; 19:224-231.
    • (2010) Diagn Mol Pathol , vol.19 , pp. 224-231
    • Jennings, L.J.1    Yu, M.2    Zhou, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.